Gene: ELOVL4

Alternate names for this Gene: ADMD|CT118|ISQMR|SCA34|STGD2|STGD3

Gene Summary: This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration.

Gene is located in Chromosome: 6

Location in Chromosome : 6q14.1

Description of this Gene: ELOVL fatty acid elongase 4

Type of Gene: protein-coding

rs587777598 in ELOVL4 gene and Erythrokeratodermia with ataxia PMID 24566826 2014 Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

rs76567515 in ELOVL4 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.